Mitochondrial complex I deficiency
GPTKB entity
Statements (76)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mitochondrial disease
inborn error of metabolism |
| gptkbp:affects |
mitochondrial respiratory chain
complex I (NADH:ubiquinone oxidoreductase) |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy enzyme assay |
| gptkbp:firstDescribed |
1980s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mitochondrial complex I deficiency
|
| gptkbp:ICD-10_code |
E88.40
|
| gptkbp:inheritance |
autosomal recessive
mitochondrial (maternal) |
| gptkbp:mutationAssociatedWith |
gptkb:NDUFS1_gene
gptkb:NDUFS2_gene gptkb:NDUFS7_gene MT-ND1 gene MT-ND2 gene MT-ND5 gene MT-ND6 gene NDUFS3 gene NDUFS4 gene NDUFV2 gene MT-ND3 gene MT-ND4 gene NDUFA1 gene NDUFA10 gene NDUFA11 gene NDUFA12 gene NDUFA13 gene NDUFA2 gene NDUFA9 gene NDUFAF1 gene NDUFAF10 gene NDUFAF11 gene NDUFAF12 gene NDUFAF13 gene NDUFAF2 gene NDUFAF3 gene NDUFAF4 gene NDUFAF5 gene NDUFAF6 gene NDUFAF7 gene NDUFAF8 gene NDUFAF9 gene NDUFB11 gene NDUFB12 gene NDUFB13 gene NDUFB14 gene NDUFB15 gene NDUFB16 gene NDUFB3 gene NDUFB6 gene NDUFB8 gene NDUFB9 gene NDUFS8 gene NDUFV1 gene |
| gptkbp:OMIM |
252010
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:encephalopathy
hypotonia seizures ataxia developmental delay cardiomyopathy lactic acidosis |
| gptkbp:treatment |
gptkb:coenzyme_Q10
supportive care riboflavin L-carnitine vitamin supplements |
| gptkbp:UMLS_CUI |
C0342257
|
| gptkbp:bfsParent |
gptkb:ENSG00000198821
gptkb:MT-ND1 gptkb:MT-ND2 gptkb:NADH_dehydrogenase_subunit_6 |
| gptkbp:bfsLayer |
8
|